Newborns with myelomeningocele: their health-related quality of life and daily functioning 10 years later.

OBJECTIVE: Ten years ago, the authors reported on the outcome of their study investigating the degree of discomfort and pain in newborns with myelomeningocele (MMC), using the parameters of unbearable and hopeless suffering. In the current study, they investigated the quality of life, daily functioning, pain and fatigue, ability to communicate, and number of surgeries in the same cohort of patients. They subdivided their study population into severe (Lorber) and less severe (non-Lorber) cases and compared these cases with a healthy population (non-MMC group) and with each other. METHODS: The parents of 22 of 28 patients gave informed consent for this study. The KIDSCREEN-27 and PEDI-CAT (Pediatric Evaluation of Disability Inventory) were used to assess quality of life and daily functioning. Pain and fatigue were self-reported on a 10-point numeric rating scale. Communication and ambulation levels were determined using the Communication Function Classification System (CFCS) and the Hoffer ambulation scale. Using reference data from the KIDSCREEN-27 and PEDI-CAT, the authors created a healthy population comparison group. RESULTS: There was no significant difference in health-related quality-of-life (HRQOL) scores between Lorber and non-Lorber patients, except that school environment domain scores were lower in the Lorber group. When comparing the HRQOL of MMC patients with that of the non-MMC group, the physical well-being and parent relations and autonomy domains scored significantly lower. The daily functioning of MMC patients was lower on all domains of the PEDI-CAT compared with the non-MMC group. Lorber MMC patients scored lower on all domains of the PEDI-CAT when compared with non-Lorber patients. All patients were capable of communicating effectively; most patients (n = 18) were considered CFCS level I, and 4 patients were considered CFCS level II. CONCLUSIONS: This study shows that MMC is a severe, lifelong condition that affects patients' lives in many domains. All the patients in this study are capable of effective communication, irrespective of severity of MMC. Overall, the data show that in newborn MMC patients, future unbearable suffering with respect to pain, mobility, cognition, and communication is hard to predict and may not always occur.

[To act or not to act? Developments in prenatal and postnatal care for children with spina bifida aperta]. / Handelen of niet handelen?

To act or not to act? Developments in prenatal and postnatal care for children with spina bifida aperta Until the middle of the twentieth century, newborns with spina bifida aperta had low chances of survival. Advances in the treatment of hydrocephalus, among other conditions, led to increased chances of survival during the 1960s. This also revealed the downsides of the treatment of spina bifida patients since some considered the quality of life of a number of these patients to be unacceptable. But withholding treatment also had negative consequences, leading to an ethical deadlock. Over the past thirty years - besides postnatal closure of the neural tube defect - more emphasis has been put on selective pregnancy termination and sporadic active termination of life in newborns with very severe forms of spina bifida. At the same time, new treatment strategies, such as foetal surgery, are being developed. With this historical overview, we illustrate the way in which technological developments and ethical dilemmas are constantly affecting each other.

Minimally Invasive, Spring-Assisted Correction of Sagittal Suture Synostosis: Technique, Outcome, and Complications in 83 Cases.

BACKGROUND: This series describes the results of minimally invasive strip craniotomy with additional spring distraction. METHODS: Included are the first 83 consecutive patients who underwent this procedure (January 1, 2010, to January 1, 2014). Outcome parameters were collected prospectively and included surgical parameters and complications, the occurrence of papilledema, skull growth, cephalic index, and photographic scores. RESULTS: Duration of surgery was 63 minutes, 19 percent required blood transfusion, and complications were minor. Postoperative papilledema occurred in two patients (2.4 percent). Head growth increased after insertion of the springs and declined afterward to 0.7 SD, comparable to earlier cohorts in the authors' center. The cephalic index increased from 67 before surgery to 74 after surgery and showed a small decrease during the 4-year follow-up. Photographic scores confirmed the initial improvement and showed a trend to further improvement during follow-up. CONCLUSIONS: In this cohort, spring-assisted, minimally invasive strip craniotomy was safe and effective. Results were similar to those from other techniques but with smaller incisions, shorter interventions, reduced blood loss, and a lower incidence of postoperative papilledema. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Screening and Treatment of Tethered Spinal Cord in Anorectal Malformation Patients.

INTRODUCTION: This study aims to evaluate diagnosis and treatment of tethered spinal cord (TSC) in anorectal malformation (ARM) patients. MATERIAL AND METHODS: A retrospective case study was performed on patients with an ARM born between 2004 and 2011 and treated at the Erasmus MC-Sophia Children's Hospital. RESULTS: During the study period, 110 neonates with ARM were treated. Spinal ultrasonography was performed in 94 (85%) patients. Ultrasonography findings were abnormal in 17 patients (18%): 16 had evidence for TSC and 1 for caudal regression. These findings were confirmed by magnetic resonance imaging (MRI) in eight patients. Six of the other 76 patients developed neurologic symptoms and MRI revealed evidence for TSC in 2 of those 6 patients. Thus, sensitivity of spinal ultrasonography was 80%, specificity was 89%, the positive predictive value was 47%, and the negative predictive value was 97%. The prevalence of TSC, as confirmed by MRI, was 9%. Three patients underwent untethering surgery: one patient developed neurologic symptoms and two patients were asymptomatic at the time of surgery (MRI showed progressive syringomyelia in one and the other had a dermal sinus with TSC). All operations were without any complications and the symptoms resolved in the first patient. A relationship between TSC and a specific type of ARM or syndrome disorder could not be found. CONCLUSIONS: Tethered cord occurs in 9% of the ARM patients. Neonatal spinal ultrasonography has a sensitivity and specificity of 80 and 89%, respectively. Not in all patients an MRI was performed, but the vast majority remained clinically asymptomatic concerning TSC. Ultrasound screening seems an effective screening method, however, when ultrasonography is negative and the patient becomes symptomatic later in life, an MRI should be performed to exclude TSC. In our series, only 1 of 110 ARM patients had symptomatic tethered cord syndrome, and symptoms resolved postoperatively.

Discomfort and pain in newborns with myelomeningocele: a prospective evaluation.

OBJECTIVE: In a worldwide debate on deliberately terminating the lives of newborns, proponents point at newborns with very severe forms of myelomeningocele (MMC) and their assumed suffering, claiming there are no effective means of alleviating their distress. Nevertheless, the degree of discomfort and pain in these newborns has never been assessed in a structured manner. METHODS: In a prospective cohort study, 28 consecutive newborns with MMC were included over a 5-year period and were followed up throughout their hospital stay for initial treatment. We created 2 disease severity groups on the basis of the Lorber criteria. The primary outcomes were discomfort and pain, assessed by simultaneously scoring 2 validated scales: the visual analog scale for pain and the Comfort Behavioral Scale for discomfort. These scores were coupled to a validated and evidence-based analgesia algorithm. RESULTS: Overall, discomfort related to pain was measured in 3.3% of the scores. This percentage differed little between the preoperative and postoperative periods and did not significantly differ between newborns with less severe MMC and severe MMC (3.9% vs 2.8%; P = .3). The mean dosage of paracetamol was 35 mg/kg per day (95% confidence interval: 32-39); the mean dosage of morphine was 0.9 µg/kg per hour (95% confidence interval: 0.6 -1.2). CONCLUSION: Over the length of their hospital stays for initial treatment, all newborns with MMC presented with low levels of discomfort and pain independent of disease severity and time frame.

Deliberate termination of life of newborns with spina bifida, a critical reappraisal.

OBJECTS: Deliberate termination of life of newborns (involuntary euthanasia) with meningomyelocele (MMC) is practiced openly only in The Netherlands. 'Unbearable and hopeless suffering' is the single most cited criterion for this termination, together with the notion that 'there are no other proper medical means to alleviate this suffering'. In this paper, both (and other) statements are questioned, also by putting them in a broader perspective. METHODS: First, a historical overview of the treatment of newborns with MMC is presented, concentrating on the question of selection for treatment. Second, a thorough analysis is made of the criteria used for life termination. Third, a case of a newborn with a very severe MMC is presented as a 'reference case'. CONCLUSION: 'Unbearable and hopeless suffering' cannot be applied to newborns with MMC. They are not 'terminally ill' and do have 'prospects of a future'. In these end-of-life decisions, 'quality of life judgments' should not be applied. When such a newborn is not treated, modern palliative care always will suffice in eliminating possible discomfort. There is no reason whatsoever for active life-termination of these newborns.

Visual loss in syndromic craniosynostosis with papilledema but without other symptoms of intracranial hypertension.

Four children with syndromic craniosynostosis (Crouzon's syndrome and Apert syndrome) developed irreversible visual loss. Apart from papilledema, there were no other clinical symptoms of intracranial hypertension. Ventriculomegaly or hydrocephalus was present in all cases. Two children were known to have obstructive sleep apnea syndrome. These cases are reported to inform specialists involved in follow-up of children with syndromic craniosynostosis that visual loss can develop suddenly without other symptoms of intracranial hypertension. To prevent visual loss, papilledema should be detected at an early stage and intervention should be instituted promptly. Therefore, periodic funduscopy should be performed in children at risk, such as children with syndromic craniosynostosis and additional hydrocephalus or obstructive sleep apnea syndrome.

Desmoplastic infantile astrocytoma and ganglioglioma: a search for genomic characteristics.

In the present study the clinical data, histology, proliferation rate, DNA ploidy status and the results of TP53 mutation analysis and comparative genomic hybridization (CGH) of three typical cases of desmoplastic infantile astrocytoma and ganglioglioma are presented. Postoperative disease-free intervals of 11, 8 and 3 years were recorded and in none of the cases were radiological signs of tumor recurrence. No TP53 mutations (exons 5-8) were found. CGH analysis revealed loss of 8p22-pter in one case, while in another case gain of 13q21 was detected. In the case with the follow-up of 11 years an aneuploid DNA-flow cytogram along with slightly increased MIB-1 labeling index (LI) was found. The results demonstrate little genetic instability in these low-grade lesions. DNA-aneuploidy seems not to be indicative of tumor progression. It is concluded that the genetic aberrations found in desmoplastic infantile ganglioglioma differ from those encountered in common astrocytomas.